ClinVar Miner

Submissions for variant NM_014425.5(INVS):c.1670T>G (p.Ile557Ser)

dbSNP: rs1833001296
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001059252 SCV001223872 uncertain significance Nephronophthisis 2023-08-28 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 854243). This variant has not been reported in the literature in individuals affected with INVS-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 557 of the INVS protein (p.Ile557Ser).
Fulgent Genetics, Fulgent Genetics RCV002489656 SCV002782111 uncertain significance Infantile nephronophthisis 2021-11-03 criteria provided, single submitter clinical testing

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